If you have experience of being a parent or carer of a child with a genetic, rare and/or undiagnosed condition, we want to hear from you.
Genetic Alliance UK is delighted to be collaborating with researchers at Great Ormond Street Hospital, and others, on a new research study evaluating rapid exome sequencing for critically ill children.
The study started in November 2021 and will run for two years. It is being funded by the National Institute for Health Research (NIHR202725).
Rapid exome sequencing is a new test that is being offered by the NHS. This test is offered when a baby or child is seriously ill, in need of a rapid diagnosis, and has symptoms that suggest they may have a genetic condition. Rapid exome sequencing will look for a genetic cause for the child’s medical condition.
The technology used in rapid exome sequencing is new and until now, the test has not been offered routinely in a national healthcare system. Our research is needed to make sure that the new NHS service benefits patients, supports parents and can be accessed equally by everyone. Our study will evaluate the current service and provide feedback about how it is being delivered across England.
You can help us to shape our research study by completing a survey. As part of the study, we are collecting the views of people with experience of being a parent or carer of a child with a rare, genetic or undiagnosed condition. This will help us to focus on the most relevant issues in our study and improve our understanding of how people feel about rapid exome sequencing.
The survey will take 15-20 minutes to complete and will help us find out;
You can complete the survey if you are the parent or carer of a child with a genetic, rare and/or undiagnosed condition. Bereaved parents can also take part. You must be 18 or over and live in the UK.
To complete the survey online in English, please follow this link.
To speak to a member of the research team, or to arrange to complete the survey on paper, over the phone or in a different language, please contact: Melissa Hill (RGSevaluation@gosh.nhs.uk / 020 7405 9200 4944 (ext. 4944)) or Amy Hunter (amy.hunter@geneticalliance.org.uk).
Where can I find out more?
Download our Participant Information Sheet
Download our infographic here about the survey – please share this with your own networks.
Download our infographic describing the study.
Watch our videos of a clinician describing the new test and our study plan, or download the same information in translation in Bangla, Hindi, Polish (video here), Punjabi, Turkish, Urdu.
For more information contact Amy Hunter (amy.hunter@geneticalliance) or the lead of the study, Melissa Hill (RGSevaluation@gosh.nhs.uk / 020 7405 9200 4944 (ext 4944)).
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